{"orpha":1929,"name":"Rasmussen syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Rasmussen subacute encephalitis"],"definition":"A rare inflammatory and autoimmune disease with epilepsy characterized by unilateral hemispheric atrophy, associated with drug-resistant focal epilepsy, progressive hemiplegia, and cognitive decline. The disease mainly affects children and begins with a prodromal period with mild hemiparesis or infrequent seizures lasting up to several years. The acute stage is marked by frequent seizures arising from one cerebral hemisphere, followed by a residual stage with persistent severe neurological deficits and relapsing epilepsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1929/","orphanet_url":"https://www.orpha.net/en/disease/detail/1929","names":{"fr":{"name":"Syndrome de Ramussen","synonyms":["Encéphalite de Rasmussen","Encéphalite focale de Rasmussen"],"definition":"Maladie inflammatoire et auto-immune rare avec épilepsie caractérisée par une atrophie hémisphérique unilatérale, associée à une épilepsie focale résistante aux médicaments, une hémiplégie progressive et un déclin cognitif. La maladie affecte généralement les enfants et débute par une phase prodromique avec une légère hémiparésie ou des crises convulsives peu fréquentes pouvant persister jusqu'à plusieurs années. Le stade aigu est marqué par des crises convulsives fréquentes débutant dans un seul hémisphère cérébral, suivi d'un stade résiduel avec des déficits neurologiques sévères persistants et une épilepsie récurrente."},"de":{"name":"Rasmussen-Enzephalitis","synonyms":["Rasmussen-Syndrom"],"definition":"Eine seltene inflammatorische und autoimmune Erkrankung mit Epilepsie, die durch eine einseitige Hemisphärenatrophie gekennzeichnet ist und mit arzneimittelresistenter fokaler Epilepsie, progressiver Hemiplegie und kognitivem Abbau einhergeht. Die Krankheit betrifft hauptsächlich Kinder und beginnt mit einem Prodromalstadium mit leichter Hemiparese oder seltenen Anfällen, das bis zu mehreren Jahren andauern kann. Das akute Stadium ist durch häufige Anfälle gekennzeichnet, die von einer Gehirnhälfte ausgehen, gefolgt von einem Residualstadium mit anhaltenden schweren neurologischen Defiziten und rezidivierender Epilepsie."},"es":{"name":"Síndrome de Rasmussen","synonyms":["Encefalitis subaguda de Rasmussen"],"definition":"Es una enfermedad poco frecuente inflamatoria y autoinmune con epilepsia caracterizada por atrofia hemisférica unilateral, asociada a epilepsia focal farmacorresistente, hemiplejía progresiva y deterioro cognitivo. La enfermedad afecta principalmente a niños y debuta con un período prodrómico con hemiparesia leve o crisis poco frecuentes que dura hasta varios años. La fase aguda está caracterizada por crisis frecuentes que se originan en un hemisferio cerebral, a lo que sigue una fase residual con un déficit neurológico persistente grave y epilepsia recurrente."},"it":{"name":"Sindrome di Rasmussen","synonyms":["Encefalite subacuta di Rasmussen"],"definition":"Si tratta di una malattia infiammatoria e autoimmune rara associata all'epilessia, caratterizzata da atrofia emisferica monolaterale, epilessia focale farmaco-resistente, emiplegia progressiva e declino cognitivo. La malattia di solito esordisce nell'infanzia con un periodo prodromico caratterizzato da lieve emiparesi o crisi non frequenti, che può durare fino a qualche anno. La fase acuta è caratterizzata da crisi frequenti che originano da un emisfero cerebrale, ed è seguita da una fase residua in cui si osservano deficit neurologici gravi e persistenti ed epilessia recidivante."},"nl":{"name":"Syndroom van Rasmussen","synonyms":["Subacute encefalitis van Rasmussen"],"definition":"Een zeldzame inflammatoire en auto-immuunziekte met epilepsie, gekarakteriseerd door unilaterale atrofie van hemisfeer, geassocieerd met medicatieresistente focale epilepsie, progressieve hemiplegie, en cognitieve aftakeling. De ziekte treft vooral kinderen en begint met een prodromale fase van enkele jaren met milde hemiparese of sporadische insulten. De acute fase wordt gekenmerkt door frequente insulten die ontstaan in één cerebrale hemisfeer, gevolgd door een residuele fase met persisterende ernstige neurologische stoornissen en terugkerende epilepsie."},"pt":{"name":"Encefalite sub-aguda de Rasmussen","synonyms":["Síndrome Rasmussen"]},"pl":{"name":"Podostre zapalenie mózgu Rasmussena","synonyms":["Zespół Rasmussena"]},"cs":{"name":"Rasmussenova subakutní encefalitida","synonyms":["Rasmussenův syndrom","Epilepsia partialis continua dětského věku"]},"uk":{"name":"Підгострий енцефаліт Расмуссена","synonyms":["Синдром Расмуссена"],"definition":"A rare inflammatory and autoimmune disease with epilepsy characterized by unilateral hemispheric atrophy, associated with drug-resistant focal epilepsy, progressive hemiplegia, and cognitive decline. The disease mainly affects children and begins with a prodromal period with mild hemiparesis or infrequent seizures lasting up to several years. The acute stage is marked by frequent seizures arising from one cerebral hemisphere, followed by a residual stage with persistent severe neurological deficits and relapsing epilepsy."},"zh":{"name":"Rasmussen亚急性脑炎","synonyms":["Rasmussen综合症"]},"tr":{"name":"Rasmussen subakut ensefaliti","synonyms":["Rasmussen sendromu"]}},"xrefs":[{"source":"ICD-10","code":"G04.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"8A62.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"182666470"},{"source":"MONDO","code":"0016019","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535291","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930868","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10071141","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98255,"name":"Chronic encephalitis","classifications":[181]},{"orpha":166484,"name":"Inflammatory and autoimmune disease with epilepsy","classifications":[181]},{"orpha":699645,"name":"Variable age-onset epilepsy syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-06","source":"30530407[PMID]_28572051[PMID]","terms":[{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100308","label":"Cerebral cortical hemiatrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011195","label":"EEG with focal sharp slow waves","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011193","label":"EEG with focal spikes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012847","label":"Epilepsia partialis continua","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002349","label":"Focal aware seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011153","label":"Focal motor seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032665","label":"Repeated focal motor seizures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012157","label":"Subcortical cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002921","label":"Abnormality of the cerebrospinal fluid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020151","label":"Anti-dsDNA antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007334","label":"Bilateral tonic-clonic seizure with focal onset","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025190","label":"Bilateral tonic-clonic seizure with generalized onset","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031491","label":"Continuous spike and waves during slow sleep","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011185","label":"EEG with focal epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032046","label":"Focal cortical dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032005","label":"Hemidystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031535","label":"Increased theta frequency activity in EEG","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011182","label":"Interictal epileptiform activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012708","label":"Reduced brain N-acetyl aspartate level by MRS","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011163","label":"Somatosensory auras","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003460","label":"Decreased circulating total IgA","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032661","label":"Generalized convulsive status epilepticus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002283","label":"Global brain atrophy","frequency":"Very rare (<4-1%)","criteria":null}]}}